ClinVar Miner

List of variants studied for Segawa syndrome, autosomal recessive by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 3
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NM_199292.3(TH):c.457C>T (p.Arg153Ter) rs771610752
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.807_808del (p.Leu270fs) rs1564918287

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